L29V (p.Leu29Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
L29V (p.Leu29Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- rs374273516
- ClinGen CA893247
- ClinVar RCV003119001
- ESP rs374273516
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.09
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available