A13D (p.Ala13Asp) variant of SPINK5 (Q9NQ38)
A13D (p.Ala13Asp) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD 5-148064082-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.82
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available