A4V (p.Ala4Val) variant of SPINK5 (Q9NQ38)
A4V (p.Ala4Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- ExAC rs747877527
- gnomAD rs747877527
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -0.96
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available