P32S (p.Pro32Ser) variant of FBN2 (Fibrillin-2)
P32S (p.Pro32Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- gnomAD rs1163494935
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.31
- CADD 19.60
- PolyPhen-2 0.24
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available