R318S (p.Arg318Ser) variant of OCRL (Q01968)
R318S (p.Arg318Ser) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lowe syndrome; OCRL-related disorder; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
R318S (p.Arg318Ser) variant details
- p.Arg318Ser
- rs137853263
- ClinGen CA414552471
- ClinVar RCV000681712
- ClinVar RCV005901602
- Likely pathogenic
- Lowe syndrome; OCRL-related disorder; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in DENT2 and OCRL)
- UniProt: Pathogenic (in DENT2 and OCRL)
- Structural context available