L80F (p.Leu80Phe) variant of CHM (P24386)
L80F (p.Leu80Phe) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L80F (p.Leu80Phe) variant details
- p.Leu80Phe
- rs55741408
- ClinGen CA10465619
- ClinVar RCV000865421
- ClinVar RCV001274749
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -0.77
- CADD 22.80
- PolyPhen-2 0.56
- SIFT 0.15
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.064)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)