S54T (p.Ser54Thr) variant of FBN2 (Fibrillin-2)
S54T (p.Ser54Thr) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- cosmic curated COSV10806
- Ensembl rs1756885112
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available