P54Q (p.Pro54Gln) variant of TNNC1 (P63316)
P54Q (p.Pro54Gln) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P54Q (p.Pro54Gln) variant details
- p.Pro54Gln
- rs752503819
- gnomAD 19-55156238-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.82
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available