L118V (p.Leu118Val) variant of CHM (P24386)
L118V (p.Leu118Val) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L118V (p.Leu118Val) variant details
- p.Leu118Val
- rs1355442853
- ClinGen CA413787374
- ClinVar RCV001242636
- ClinVar RCV001828998
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.04
- CADD 13.80
- PolyPhen-2 0.12
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00029)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)