G56S (p.Gly56Ser) variant of FBN2 (Fibrillin-2)
G56S (p.Gly56Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- cosmic curated COSV10510
- gnomAD rs1286855209
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.26
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available