P11S (p.Pro11Ser) variant of ELN (Elastin)
P11S (p.Pro11Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- ExAC rs782365678
- gnomAD rs782365678
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available