P637Q (p.Pro637Gln) variant of FLNA (Filamin-A)
P637Q (p.Pro637Gln) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac valvular dysplasia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P637Q (p.Pro637Gln) variant details
- p.Pro637Gln
- rs267606815
- ClinGen CA121666
- ClinVar RCV000012543
- UniProt VAR 064157
- Pathogenic
- Cardiac valvular dysplasia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Cardiac valvular dysplasia, X-linked)
- EBI: Pathogenic (in CVDPX)
- UniProt: Pathogenic (in CVDPX)
- Structural context available
- Cited in: Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. (PMID 17190868)
- Cited in: Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. (PMID 9497244)