Q9K (p.Gln9Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
Q9K (p.Gln9Lys) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
Q9K (p.Gln9Lys) variant details
- p.Gln9Lys
- rs730881149
- ClinGen CA018800
- ClinVar RCV000159394
- ClinVar RCV000619514
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.72
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.11
- SIFT 0.00
- MutPred 0.15
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available