D937G (p.Asp937Gly) variant of DNMT1 (P26358)
D937G (p.Asp937Gly) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pituitary stalk interruption syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
D937G (p.Asp937Gly) variant details
- p.Asp937Gly
- rs2038202226
- ClinGen CA403976161
- ClinVar RCV001257292
- Ensembl rs2038202226
- Likely pathogenic
- Pituitary stalk interruption syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.68
- MetaLR 0.77
- MetaSVM 0.61
- PolyPhen-2 0.95
- SIFT 0.02
- EVE 0.53
- ClinVar: Likely pathogenic (Pituitary stalk interruption syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available