P37S (p.Pro37Ser) variant of FBN2 (Fibrillin-2)
P37S (p.Pro37Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- gnomAD rs1449939087
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.13
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available