I62V (p.Ile62Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
I62V (p.Ile62Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- rs202021264
- ClinGen CA160152
- ClinVar RCV000121237
- ClinVar RCV001514178
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.03
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0072)
- Structural context available