A9V (p.Ala9Val) variant of MED13L (Q71F56)
A9V (p.Ala9Val) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs2500191509
- ClinGen CA386927956
- ClinVar RCV003225494
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available