D47G (p.Asp47Gly) variant of SPINK5 (Q9NQ38)
D47G (p.Asp47Gly) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- gnomAD 5-148070381-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.92
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available