A4D (p.Ala4Asp) variant of SPINK5 (Q9NQ38)
A4D (p.Ala4Asp) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 5-148064055-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.20
- MetaLR 0.17
- MetaSVM -0.92
- CADD 5.52
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available