K15N (p.Lys15Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
K15N (p.Lys15Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
K15N (p.Lys15Asn) variant details
- p.Lys15Asn
- rs199476301
- ClinGen CA018057
- ClinVar RCV000024588
- ClinVar RCV000036334
- Conflicting interpretations
- not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.33
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available