M1I (p.Met1Ile) variant of CHM (P24386)
M1I (p.Met1Ile) 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 0.90 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1603288875
- ClinGen CA413788726
- ClinVar RCV000787564
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)