C15Y (p.Cys15Tyr) variant of SPINK5 (Q9NQ38)
C15Y (p.Cys15Tyr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C15Y (p.Cys15Tyr) variant details
- p.Cys15Tyr
- Ensembl rs992803751
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.20
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available