F33Y (p.Phe33Tyr) variant of SPINK5 (Q9NQ38)
F33Y (p.Phe33Tyr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
F33Y (p.Phe33Tyr) variant details
- p.Phe33Tyr
- ExAC rs757090351
- TOPMed rs757090351
- gnomAD rs757090351
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.91
- CADD 9.48
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available