G17A (p.Gly17Ala) variant of FBN2 (Fibrillin-2)
G17A (p.Gly17Ala) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD rs1312249282
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.21
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available