A64V (p.Ala64Val) variant of SLC30A8 (Q8IWU4)
A64V (p.Ala64Val) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- rs774478941
- NCI-TCGA Cosmic COSV6996
- cosmic curated COSV69968
- ExAC rs774478941
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.08
- CADD 1.19
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available