L70V (p.Leu70Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
L70V (p.Leu70Val) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- cosmic curated COSV71686
- ExAC rs770063056
- gnomAD rs770063056
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.61
- CADD 25.60
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available