I17V (p.Ile17Val) variant of SPINK5 (Q9NQ38)
I17V (p.Ile17Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- gnomAD rs1421879211
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.06
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available