T27P (p.Thr27Pro) variant of ERBB2 (P04626)
T27P (p.Thr27Pro) 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 0.48 / 1. The record also includes population frequency data and structural context.
T27P (p.Thr27Pro) variant details
- p.Thr27Pro
- rs779913120
- ClinGen CA8533529
- ClinVar RCV001893157
- ExAC rs779913120
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.38
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- Structural context available