F33V (p.Phe33Val) variant of SPINK5 (Q9NQ38)
F33V (p.Phe33Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F33V (p.Phe33Val) variant details
- p.Phe33Val
- gnomAD 5-148070338-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.15
- MetaLR 0.02
- MetaSVM -1.00
- CADD 17.30
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available