G10V (p.Gly10Val) variant of RAG1 (P15918)
G10V (p.Gly10Val) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- rs977780517
- ClinGen CA220599791
- ClinVar RCV002020935
- ClinVar RCV004765367
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.17
- MetaLR 0.23
- MetaSVM -0.68
- CADD 19.70
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.045)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)