M149I (p.Met149Ile) variant of CHM (P24386)
M149I (p.Met149Ile) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M149I (p.Met149Ile) variant details
- p.Met149Ile
- rs746057999
- ClinGen CA10465575
- ClinVar RCV001518602
- ClinVar RCV001832702
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.06
- MetaLR 0.29
- MetaSVM -0.84
- CADD 5.30
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00057)
- 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)