F51C (p.Phe51Cys) variant of SPINK5 (Q9NQ38)
F51C (p.Phe51Cys) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
F51C (p.Phe51Cys) variant details
- p.Phe51Cys
- gnomAD 5-148070393-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.08
- CADD 18.20
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available