I33V (p.Ile33Val) variant of G6PD (P11413)
I33V (p.Ile33Val) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, 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 0.52 / 1. The record also includes structural context.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- rs2070702712
- ClinGen CA415201977
- ClinVar RCV003884024
- Ensembl rs2070702712
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.12
- MetaLR 0.83
- MetaSVM 0.34
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available