G2R (p.Gly2Arg) variant of CALCA (P06881)
G2R (p.Gly2Arg) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs34587547
- UniProt VAR 025271
- 1000Genomes rs34587547
- ESP rs34587547
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available