P23S (p.Pro23Ser) variant of OCRL (Q01968)
P23S (p.Pro23Ser) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs761760656
- ClinGen CA10511920
- ClinVar RCV002633452
- 1000Genomes rs761760656
- Likely benign
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.14
- MetaLR 0.53
- MetaSVM -0.53
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Likely benign (Lowe syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.014)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)