C30F (p.Cys30Phe) variant of SPINK5 (Q9NQ38)
C30F (p.Cys30Phe) 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, published literature, and structural context.
C30F (p.Cys30Phe) variant details
- p.Cys30Phe
- gnomAD 5-148070330-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- MetaLR 0.11
- MetaSVM -1.02
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available