L592R (p.Leu592Arg) variant of DNMT1 (P26358)
L592R (p.Leu592Arg) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant cerebellar ataxia, deafness and narcolepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
L592R (p.Leu592Arg) variant details
- p.Leu592Arg
- rs2038416963
- ClinGen CA403934348
- ClinVar RCV001254069
- Ensembl rs2038416963
- Likely pathogenic
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.70
- MetaLR 0.23
- MetaSVM -0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Autosomal dominant cerebellar ataxia, deafness and narcolepsy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available