M125V (p.Met125Val) variant of G6PD (P11413)
M125V (p.Met125Val) in G6PD (P11413) 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 0.29 / 1. The record also includes population frequency data and structural context.
M125V (p.Met125Val) variant details
- p.Met125Val
- cosmic curated COSV10970
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.41
- CADD 1.55
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available