P42T (p.Pro42Thr) variant of FBN2 (Fibrillin-2)
P42T (p.Pro42Thr) 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.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- TOPMed rs1756886852
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.18
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available