L124F (p.Leu124Phe) variant of CHM (P24386)
L124F (p.Leu124Phe) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L124F (p.Leu124Phe) variant details
- p.Leu124Phe
- rs765359472
- ClinGen CA10465583
- ClinVar RCV001483396
- ExAC rs765359472
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.12
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -1.05
- CADD 1.70
- PolyPhen-2 0.08
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available