G53A (p.Gly53Ala) variant of FBN2 (Fibrillin-2)
G53A (p.Gly53Ala) 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 0.32 / 1. The record also includes population frequency data and structural context.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- 1000Genomes rs375093230
- ESP rs375093230
- ExAC rs375093230
- TOPMed rs375093230
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.19
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available