D14Y (p.Asp14Tyr) variant of TPM1 (Tropomyosin alpha-1 chain)
D14Y (p.Asp14Tyr) 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 provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D14Y (p.Asp14Tyr) variant details
- p.Asp14Tyr
- rs876661210
- ClinGen CA10577515
- ClinVar RCV000213187
- ClinVar RCV001854749
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.23
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available