P23P (p.Pro23Pro) variant of ELN (Elastin)
P23P (p.Pro23Pro) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P23P (p.Pro23Pro) variant details
- p.Pro23Pro
- rs142370984
- gnomAD 7-74028256-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available