D51H (p.Asp51His) variant of RAG1 (P15918)
D51H (p.Asp51His) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D51H (p.Asp51His) variant details
- p.Asp51His
- rs373615697
- ClinGen CA5949911
- ClinVar RCV003383813
- ESP rs373615697
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.76
- CADD 16.60
- PolyPhen-2 0.09
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)