A53V (p.Ala53Val) variant of BAK1 (Q16611)
A53V (p.Ala53Val) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- cosmic curated COSV62349
- ESP rs375013861
- ExAC rs375013861
- TOPMed rs375013861
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.03
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available