M1V (p.Met1Val) variant of CHM (P24386)
M1V (p.Met1Val) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Choroideremia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1057516265
- ClinGen CA16042050
- ClinVar RCV000412301
- Likely pathogenic
- Choroideremia
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Choroideremia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)