P9P (p.Pro9Pro) variant of ELN (Elastin)
P9P (p.Pro9Pro) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P9P (p.Pro9Pro) variant details
- p.Pro9Pro
- rs781942461
- gnomAD 7-74028214-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 6.95
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available