P54S (p.Pro54Ser) variant of TNNC1 (P63316)
P54S (p.Pro54Ser) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs77615401
- gnomAD 19-55156239-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.76
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available