D38N (p.Asp38Asn) variant of CALCA (P06881)
D38N (p.Asp38Asn) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- gnomAD 11-14970050-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.06
- CADD 14.20
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available