V21G (p.Val21Gly) variant of FLNA (Filamin-A)
V21G (p.Val21Gly) in FLNA (Filamin-A) 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 0.19 / 1. The record also includes population frequency data and structural context.
V21G (p.Val21Gly) variant details
- p.Val21Gly
- gnomAD rs1247203858
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.18
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available