A20V (p.Ala20Val) variant of ERBB2 (P04626)
A20V (p.Ala20Val) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs2145269846
- ClinGen CA399266747
- ClinVar RCV001881976
- Ensembl rs2145269846
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available