G20V (p.Gly20Val) variant of FLNA (Filamin-A)
G20V (p.Gly20Val) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- cosmic curated COSV10591
- gnomAD rs1557180246
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.20
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available