V74M (p.Val74Met) variant of BAK1 (Q16611)
V74M (p.Val74Met) 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 0.43 / 1. The record also includes population frequency data and structural context.
V74M (p.Val74Met) variant details
- p.Val74Met
- rs765284813
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- ExAC rs765284813
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.17
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available