R40C (p.Arg40Cys) variant of JAK3 (Tyrosine-protein kinase JAK3)
R40C (p.Arg40Cys) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs140784576
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71686
- ESP rs140784576
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.20
- CADD 8.39
- PolyPhen-2 0.00
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs56384680)
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available