A14V (p.Ala14Val) variant of RAG1 (P15918)
A14V (p.Ala14Val) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD rs1435668744
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -1.04
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available