D3V (p.Asp3Val) variant of TNNC1 (P63316)
D3V (p.Asp3Val) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- rs730881063
- ClinGen CA297337
- ClinVar RCV000159203
- Ensembl rs730881063
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.49
- MetaLR 0.36
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.42
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available