L191F (p.Leu191Phe) variant of MED13L (Q71F56)
L191F (p.Leu191Phe) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided; Dextro-looped transposition of the great. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L191F (p.Leu191Phe) variant details
- p.Leu191Phe
- rs201690921
- ClinGen CA6811642
- ClinVar RCV001205743
- ClinVar RCV001565398
- Likely benign
- Inborn genetic diseases; not provided; Dextro-looped transposition of the great
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.80
- PolyPhen-2 0.93
- SIFT 0.72
- ClinVar: Likely benign (Inborn genetic diseases; not provided; Dextro-looped transpositi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- 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)