V30V (p.Val30Val) variant of DSP (Desmoplakin)
V30V (p.Val30Val) in DSP (Desmoplakin) is a synonymous 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.
V30V (p.Val30Val) variant details
- p.Val30Val
- gnomAD 6-7542005-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available