H5P (p.His5Pro) variant of FLNA (Filamin-A)
H5P (p.His5Pro) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H5P (p.His5Pro) variant details
- p.His5Pro
- gnomAD rs1557180291
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.45
- AlphaMissense 0.05
- MetaLR 0.39
- MetaSVM -0.46
- CADD 22.60
- PolyPhen-2 0.17
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available