A127V (p.Ala127Val) variant of IRAG1 (Q9Y6F6)
A127V (p.Ala127Val) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- rs149620181
- ClinGen CA5884555
- cosmic curated COSV10893
- ClinVar RCV004403151
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -1.05
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available