A61V (p.Ala61Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
A61V (p.Ala61Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- cosmic curated COSV60188
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available