P122S (p.Pro122Ser) variant of ANKRD1 (Q15327)
P122S (p.Pro122Ser) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes published literature and structural context.
P122S (p.Pro122Ser) variant details
- p.Pro122Ser
- rs756392442
- ClinGen CA377552346
- ClinVar RCV002731631
- ExAC rs756392442
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.08
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.45
- EVE 0.10
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)