V15A (p.Val15Ala) variant of TYK2 (P29597)
V15A (p.Val15Ala) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- rs144960992
- ClinGen CA9193896
- cosmic curated COSV53392
- ClinVar RCV000482893
- Benign/Likely benign
- not provided; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- REVEL 0.10
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Benign/Likely benign (not provided; Immunodeficiency 35)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available