P32T (p.Pro32Thr) variant of FBN2 (Fibrillin-2)
P32T (p.Pro32Thr) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- gnomAD rs1163494935
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.35
- CADD 18.20
- PolyPhen-2 0.24
- SIFT 0.47
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available