D26V (p.Asp26Val) variant of SPINK5 (Q9NQ38)
D26V (p.Asp26Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D26V (p.Asp26Val) variant details
- p.Asp26Val
- gnomAD 5-148065368-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.08
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available