F41L (p.Phe41Leu) variant of ADNP (Q9H2P0)
F41L (p.Phe41Leu) in ADNP (Q9H2P0) 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 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- rs2122826673
- ClinGen CA408981663
- ClinVar RCV001767553
- Ensembl rs2122826673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.378