V78A (p.Val78Ala) variant of CALCRL (Q16602)
V78A (p.Val78Ala) in CALCRL (Q16602) 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 and structural context.
V78A (p.Val78Ala) variant details
- p.Val78Ala
- cosmic curated COSV66473
- Ensembl rs1559052135
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available