L108F (p.Leu108Phe) variant of CHM (P24386)
L108F (p.Leu108Phe) in CHM (P24386) 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 0.12 / 1. The record also includes population frequency data and structural context.
L108F (p.Leu108Phe) variant details
- p.Leu108Phe
- rs1457228334
- ClinGen CA413787437
- ClinVar RCV003044945
- gnomAD rs1457228334
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -1.04
- CADD 7.76
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00039)
- Structural context available