K51R (p.Lys51Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
K51R (p.Lys51Arg) 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 provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- rs1566937728
- ClinGen CA392718559
- ClinVar RCV000701909
- ClinVar RCV001785704
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.43
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.52
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available