A54V (p.Ala54Val) variant of H6PD (O95479)
A54V (p.Ala54Val) in H6PD (O95479) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs140077792
- cosmic curated COSV10611
- 1000Genomes rs140077792
- ESP rs140077792
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.085
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.05
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available