V95L (p.Val95Leu) variant of TNNT2 (Troponin T, cardiac muscle)
V95L (p.Val95Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V95L (p.Val95Leu) variant details
- p.Val95Leu
- Ensembl rs1659515084
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.70
- MetaLR 0.96
- MetaSVM 1.09
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available