F104L (p.Phe104Leu) variant of KCNQ2 (O43526)
F104L (p.Phe104Leu) in KCNQ2 (O43526) is a missense change. Clinical records from UniProt describe it as complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
F104L (p.Phe104Leu) variant details
- p.Phe104Leu
- rs771809196
- ClinGen CA9958860
- ClinVar RCV003315385
- ExAC rs771809196
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.55
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Complex neurodevelopmental disorder
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available