P65S (p.Pro65Ser) variant of ELN (Elastin)
P65S (p.Pro65Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- TOPMed rs1554666534
- gnomAD rs1554666534
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.08
- CADD 22.30
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available