A15T (p.Ala15Thr) variant of PLN (Phospholamban)
A15T (p.Ala15Thr) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs397516785
- ClinGen CA134581
- ClinVar RCV000037583
- ClinVar RCV001852781
- Conflicting interpretations
- not specified; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.30
- MetaLR 0.84
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.16
- ClinVar: Conflicting classifications of pathogenicity (not specified; Dilated cardiomyopathy 1P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)