G3S (p.Gly3Ser) variant of ELN (Elastin)
G3S (p.Gly3Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- cosmic curated COSV52707
- Ensembl rs1787856509
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:YI population (allele frequency 0.056)
- Structural context available