D35H (p.Asp35His) variant of IL2RG (P31785)
D35H (p.Asp35His) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D35H (p.Asp35His) variant details
- p.Asp35His
- cosmic curated COSV10959
- Ensembl rs2092263840
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available