I23V (p.Ile23Val) variant of RAG1 (P15918)
I23V (p.Ile23Val) 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, published literature, and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- gnomAD 11-36573371-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available