D22H (p.Asp22His) variant of FLNA (Filamin-A)
D22H (p.Asp22His) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D22H (p.Asp22His) variant details
- p.Asp22His
- rs782199446
- ClinGen CA10561467
- ClinVar RCV002469780
- ExAC rs782199446
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- CADD 17.00
- PolyPhen-2 0.16
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available