D20N (p.Asp20Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
D20N (p.Asp20Asn) 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 not specified; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- rs727504391
- ClinGen CA018165
- ClinVar RCV000154553
- ClinVar RCV000766942
- Uncertain significance
- not specified; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.85
- CADD 28.10
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available