V63A (p.Val63Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
V63A (p.Val63Ala) in JAK2 (Tyrosine-protein kinase JAK2) 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 0.26 / 1. The record also includes population frequency data and structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- rs1211921813
- ClinGen CA372819907
- ClinVar RCV003856654
- TOPMed rs1211921813
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.11
- AlphaMissense 0.17
- MetaLR 0.26
- MetaSVM -0.77
- CADD 20.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available