V11A (p.Val11Ala) variant of IL7R (P16871)
V11A (p.Val11Ala) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- rs539820821
- ClinGen CA3231819
- ClinVar RCV001235068
- 1000Genomes rs539820821
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.14
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.96
- CADD 14.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available