P8A (p.Pro8Ala) variant of CALCA (P06881)
P8A (p.Pro8Ala) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- gnomAD 11-14971171-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.04
- CADD 9.52
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available