M1I (p.Met1Ile) variant of ANKRD1 (Q15327)
M1I (p.Met1Ile) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs188706671
- ClinGen CA377554435
- ClinVar RCV001700568
- ClinGen CA5598881
- Uncertain significance
- not provided
- Missense
- MetaLR 0.20
- MetaSVM -0.66
- PolyPhen-2 0.63
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)