E23D (p.Glu23Asp) variant of TPM1 (Tropomyosin alpha-1 chain)
E23D (p.Glu23Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- rs876661396
- ClinGen CA10581183
- ClinVar RCV000223855
- Ensembl rs876661396
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available