G2A (p.Gly2Ala) variant of FBN2 (Fibrillin-2)
G2A (p.Gly2Ala) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- TOPMed rs976599275
- gnomAD rs976599275
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.48
- CADD 23.20
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available