V76A (p.Val76Ala) variant of MED13L (Q71F56)
V76A (p.Val76Ala) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V76A (p.Val76Ala) variant details
- p.Val76Ala
- rs766945145
- ClinGen CA6811802
- ClinVar RCV003493077
- ExAC rs766945145
- Uncertain significance
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 23.60
- PolyPhen-2 0.61
- SIFT 0.49
- ClinVar: Uncertain significance (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)