A50D (p.Ala50Asp) variant of ELN (Elastin)
A50D (p.Ala50Asp) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- cosmic curated COSV10438
- TOPMed rs1428306094
- gnomAD rs1428306094
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available