V64A (p.Val64Ala) variant of TNNC1 (P63316)
V64A (p.Val64Ala) in TNNC1 (P63316) 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 0.47 / 1. The record also includes structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- rs730881057
- ClinGen CA297313
- ClinVar RCV000159194
- Ensembl rs730881057
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.85
- MetaLR 0.46
- MetaSVM 0.03
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available