P54T (p.Pro54Thr) variant of TNNC1 (P63316)
P54T (p.Pro54Thr) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- gnomAD 19-55156239-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.75
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available