P1530S (p.Pro1530Ser) variant of DNMT1 (P26358)
P1530S (p.Pro1530Ser) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spastic ataxia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
P1530S (p.Pro1530Ser) variant details
- p.Pro1530Ser
- rs1555687655
- ClinGen CA403968237
- ClinVar RCV001647249
- Ensembl rs1555687655
- Likely pathogenic
- Spastic ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Spastic ataxia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available