N130K (p.Asn130Lys) variant of CALCRL (Q16602)
N130K (p.Asn130Lys) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N130K (p.Asn130Lys) variant details
- p.Asn130Lys
- cosmic curated COSV10113
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.09
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available