A71V (p.Ala71Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
A71V (p.Ala71Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- Ensembl rs2102370821
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available