P38P (p.Pro38Pro) variant of ELN (Elastin)
P38P (p.Pro38Pro) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P38P (p.Pro38Pro) variant details
- p.Pro38Pro
- rs782104032
- gnomAD 7-74035395-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0996
- CADD 2.68
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available