Q31P (p.Gln31Pro) variant of FBN2 (Fibrillin-2)
Q31P (p.Gln31Pro) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q31P (p.Gln31Pro) variant details
- p.Gln31Pro
- Ensembl rs1561505081
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available