P11P (p.Pro11Pro) variant of ELN (Elastin)
P11P (p.Pro11Pro) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P11P (p.Pro11Pro) variant details
- p.Pro11Pro
- rs373864057
- gnomAD 7-74028220-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.86
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available