S13A (p.Ser13Ala) variant of RAG1 (P15918)
S13A (p.Ser13Ala) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S13A (p.Ser13Ala) variant details
- p.Ser13Ala
- rs760746448
- ClinGen CA5949891
- ClinVar RCV000308604
- ClinVar RCV000363341
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.85
- CADD 22.00
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available