P38R (p.Pro38Arg) variant of ELN (Elastin)
P38R (p.Pro38Arg) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- rs781951450
- ClinGen CA4292262
- ClinVar RCV001306709
- ClinVar RCV004531088
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available