M2T (p.Met2Thr) variant of ANKRD1 (Q15327)
M2T (p.Met2Thr) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- ExAC rs768122383
- gnomAD rs768122383
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.15
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available