P12S (p.Pro12Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
P12S (p.Pro12Ser) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- cosmic curated COSV71685
- gnomAD rs1423714862
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.18
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available