R9G (p.Arg9Gly) variant of PIK3R1 (P27986)
R9G (p.Arg9Gly) in PIK3R1 (P27986) 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 0.42 / 1. The record also includes structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs886043379
- ClinGen CA10605450
- ClinVar RCV000403930
- Ensembl rs886043379
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.85
- MetaLR 0.14
- MetaSVM -0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available