V30G (p.Val30Gly) variant of DSP (Desmoplakin)
V30G (p.Val30Gly) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- gnomAD 6-7542004-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.01
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available