P305A (p.Pro305Ala) variant of RAG2 (P55895)
P305A (p.Pro305Ala) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P305A (p.Pro305Ala) variant details
- p.Pro305Ala
- rs370666759
- ClinGen CA5950503
- ClinVar RCV002002843
- ESP rs370666759
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.97
- CADD 23.30
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available