A29S (p.Ala29Ser) variant of MET (P08581)
A29S (p.Ala29Ser) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs765246117
- ClinGen CA368968310
- ClinVar RCV001937382
- ExAC rs765246117
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.17
- AlphaMissense 0.34
- MetaLR 0.56
- MetaSVM -0.11
- CADD 21.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available