S36N (p.Ser36Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
S36N (p.Ser36Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- rs1174194983
- ClinGen CA392718159
- cosmic curated COSV51265
- ClinVar RCV001220169
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available