E195K (p.Glu195Lys) variant of MED13L (Q71F56)
E195K (p.Glu195Lys) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E195K (p.Glu195Lys) variant details
- p.Glu195Lys
- rs374748495
- ClinGen CA6811638
- ClinVar RCV002801937
- ESP rs374748495
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.20
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available