A31T (p.Ala31Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
A31T (p.Ala31Thr) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs397516396
- ClinGen CA018439
- ClinVar RCV000036370
- TOPMed rs397516396
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.47
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available