G56A (p.Gly56Ala) variant of SPINK5 (Q9NQ38)
G56A (p.Gly56Ala) 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 and structural context.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- 1000Genomes rs540712189
- ExAC rs540712189
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.00
- CADD 14.90
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available