A11V (p.Ala11Val) variant of CALCA (P06881)
A11V (p.Ala11Val) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs782689596
- gnomAD rs782689596
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.02
- CADD 15.20
- PolyPhen-2 0.05
- SIFT 0.41
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)