P23H (p.Pro23His) variant of ELN (Elastin)
P23H (p.Pro23His) in ELN (Elastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- ExAC rs781894708
- TOPMed rs781894708
- gnomAD rs781894708
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available