Q29H (p.Gln29His) variant of BAK1 (Q16611)
Q29H (p.Gln29His) in BAK1 (Q16611) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- TOPMed rs1367979509
- gnomAD rs1367979509
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available