M81I (p.Met81Ile) variant of TNNC1 (P63316)
M81I (p.Met81Ile) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M81I (p.Met81Ile) variant details
- p.Met81Ile
- rs545564444
- ClinGen CA2438545
- ClinVar RCV002223414
- ClinVar RCV002454590
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.11
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)