V70A (p.Val70Ala) variant of FBN2 (Fibrillin-2)
V70A (p.Val70Ala) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V70A (p.Val70Ala) variant details
- p.Val70Ala
- rs144149249
- ClinGen CA3396203
- ClinVar RCV000756150
- ClinVar RCV001404545
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.08
- AlphaMissense 0.05
- MetaLR 0.24
- MetaSVM -0.87
- CADD 8.04
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)