S22A (p.Ser22Ala) variant of DSP (Desmoplakin)
S22A (p.Ser22Ala) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S22A (p.Ser22Ala) variant details
- p.Ser22Ala
- gnomAD 6-7541979-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- MetaLR 0.25
- MetaSVM -0.50
- CADD 26.00
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available