A3V (p.Ala3Val) variant of MED13L (Q71F56)
A3V (p.Ala3Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD rs1414869776
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available