V39I (p.Val39Ile) variant of BAK1 (Q16611)
V39I (p.Val39Ile) in BAK1 (Q16611) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs764068634
- ClinGen CA3759587
- ClinVar RCV004423839
- ExAC rs764068634
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available