A42T (p.Ala42Thr) variant of ERBB3 (P21860)
A42T (p.Ala42Thr) in ERBB3 (P21860) 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 0.28 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs760515344
- ClinGen CA6621840
- ClinVar RCV004212074
- ExAC rs760515344
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.72
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available