A6V (p.Ala6Val) variant of ERBB3 (P21860)
A6V (p.Ala6Val) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs1432269330
- gnomAD rs1432269330
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- MetaLR 0.18
- MetaSVM -0.87
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available