C30Y (p.Cys30Tyr) variant of SPINK5 (Q9NQ38)
C30Y (p.Cys30Tyr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- ExAC rs753511595
- gnomAD rs753511595
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- MetaLR 0.11
- MetaSVM -1.03
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available