V82L (p.Val82Leu) variant of TNNC1 (P63316)
V82L (p.Val82Leu) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V82L (p.Val82Leu) variant details
- p.Val82Leu
- gnomAD 19-55154794-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available