Q29P (p.Gln29Pro) variant of FBN2 (Fibrillin-2)
Q29P (p.Gln29Pro) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- rs771712321
- ClinGen CA3396232
- ClinVar RCV001303765
- ClinVar RCV004036288
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.84
- SIFT 0.13
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)