D55G (p.Asp55Gly) variant of SPINK5 (Q9NQ38)
D55G (p.Asp55Gly) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- gnomAD 5-148070405-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.02
- CADD 17.00
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available