P24S (p.Pro24Ser) variant of DSP (Desmoplakin)
P24S (p.Pro24Ser) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri. The record also includes variant effect predictions and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65792
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- MetaLR 0.21
- MetaSVM -0.68
- SIFT 0.39
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- UniProt: Uncertain significance
- Structural context available