C63Y (p.Cys63Tyr) variant of SPINK5 (Q9NQ38)
C63Y (p.Cys63Tyr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
C63Y (p.Cys63Tyr) variant details
- p.Cys63Tyr
- ExAC rs759615234
- gnomAD rs759615234
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.67
- MetaLR 0.71
- MetaSVM 0.56
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available