K31R (p.Lys31Arg) variant of MED13L (Q71F56)
K31R (p.Lys31Arg) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- rs372265285
- ClinGen CA244930226
- ClinVar RCV002917034
- ClinVar RCV006473373
- Uncertain significance
- Inborn genetic diseases; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Dextro-looped transposition of the grea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)