R19S (p.Arg19Ser) variant of ORC1 (Q13415)
R19S (p.Arg19Ser) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Meier-Gorlin syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs3087473
- ClinGen CA853695
- ClinVar RCV000246237
- ClinVar RCV000347437
- Benign/Likely benign
- not specified; not provided; Meier-Gorlin syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.06
- PolyPhen-2 0.02
- SIFT 0.01
- EVE 0.31
- ClinVar: Benign/Likely benign (not specified; not provided; Meier-Gorlin syndrome 1)
- EBI: Benign (in dbSNP:rs3087473)
- UniProt: Benign (in dbSNP:rs3087473)
- Population evidence available
- Structural context available
- Cited in: Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID 23186163)