S23P (p.Ser23Pro) variant of TNNI3 (Troponin I, cardiac muscle)
S23P (p.Ser23Pro) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- rs1555864374
- ClinGen CA407443069
- ClinVar RCV000546206
- ClinVar RCV000786226
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.53
- MetaLR 0.78
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.13
- MutPred 0.13
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available