L120F (p.Leu120Phe) variant of CHD8 (Q9HCK8)
L120F (p.Leu120Phe) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar 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 0.42 / 1. The record also includes population frequency data.
L120F (p.Leu120Phe) variant details
- p.Leu120Phe
- Ensembl rs1889552219
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 15.90
- PolyPhen-2 0.08
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)