A28V (p.Ala28Val) variant of BAK1 (Q16611)
A28V (p.Ala28Val) in BAK1 (Q16611) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs4987115
- ClinGen CA3759594
- cosmic curated COSV62349
- ClinVar RCV000879093
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.11
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.49
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs4987115)
- UniProt: Benign (in dbSNP:rs4987115)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available