V129D (p.Val129Asp) variant of CALCRL (Q16602)
V129D (p.Val129Asp) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V129D (p.Val129Asp) variant details
- p.Val129Asp
- 1000Genomes rs72902462
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.19
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available