I4V (p.Ile4Val) variant of TPM1 (Tropomyosin alpha-1 chain)
I4V (p.Ile4Val) 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 0.62 / 1. The record also includes population frequency data and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs730881148
- ClinGen CA018581
- ClinVar RCV000159393
- ClinVar RCV003765003
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.65
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available