P34S (p.Pro34Ser) variant of FBN2 (Fibrillin-2)
P34S (p.Pro34Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- ExAC rs756426601
- gnomAD rs756426601
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available