A6V (p.Ala6Val) variant of MAPK1 (P28482)
A6V (p.Ala6Val) in MAPK1 (P28482) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- 1000Genomes rs2070000468
- TOPMed rs2070000468
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- MAPK1 VRT-11E: score 6.41