C15F (p.Cys15Phe) variant of SPINK5 (Q9NQ38)
C15F (p.Cys15Phe) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C15F (p.Cys15Phe) variant details
- p.Cys15Phe
- gnomAD 5-148064088-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -1.06
- CADD 24.80
- PolyPhen-2 0.24
- SIFT 0.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available