K5R (p.Lys5Arg) variant of CALCA (P06881)
K5R (p.Lys5Arg) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- gnomAD 11-14971179-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.36
- CADD 25.80
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available