S32R (p.Ser32Arg) variant of DSP (Desmoplakin)
S32R (p.Ser32Arg) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- TOPMed rs1440994214
- gnomAD rs1440994214
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.04
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.64
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available