R48L (p.Arg48Leu) variant of CALCA (P06881)
R48L (p.Arg48Leu) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- cosmic curated COSV59027
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.83
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)