S229F (p.Ser229Phe) variant of TPM1 (Tropomyosin alpha-1 chain)
S229F (p.Ser229Phe) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S229F (p.Ser229Phe) variant details
- p.Ser229Phe
- rs1114167356
- ClinGen CA392724489
- ClinVar RCV000491210
- Ensembl rs1114167356
- Likely pathogenic
- Atrial septal defect 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.66
- CADD 27.20
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Likely pathogenic (Atrial septal defect 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available