V6A (p.Val6Ala) variant of SPINK5 (Q9NQ38)
V6A (p.Val6Ala) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD 5-148064061-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.16
- MetaLR 0.27
- MetaSVM -0.77
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available