P305S (p.Pro305Ser) variant of RAG2 (P55895)
P305S (p.Pro305Ser) 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 0.88 / 1. The record also includes population frequency data and structural context.
P305S (p.Pro305Ser) variant details
- p.Pro305Ser
- ESP rs370666759
- ExAC rs370666759
- gnomAD rs370666759
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.96
- CADD 25.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available