N17K (p.Asn17Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
N17K (p.Asn17Lys) 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 0.48 / 1. The record also includes population frequency data and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- rs878854150
- ClinGen CA392718027
- ClinVar RCV004013570
- TOPMed rs878854150
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available