F33S (p.Phe33Ser) variant of SPINK5 (Q9NQ38)
F33S (p.Phe33Ser) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F33S (p.Phe33Ser) variant details
- p.Phe33Ser
- gnomAD 5-148070339-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available