A24T (p.Ala24Thr) variant of TNNI1 (Troponin I, slow skeletal muscle)
A24T (p.Ala24Thr) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.49
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available