P61S (p.Pro61Ser) variant of FBN2 (Fibrillin-2)
P61S (p.Pro61Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P61S (p.Pro61Ser) variant details
- p.Pro61Ser
- Ensembl rs1756884760
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.14
- CADD 14.10
- PolyPhen-2 0.07
- SIFT 0.82
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available