A74V (p.Ala74Val) variant of SPINK5 (Q9NQ38)
A74V (p.Ala74Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- gnomAD 5-148072159-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.05
- CADD 16.90
- PolyPhen-2 0.53
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available