P6R (p.Pro6Arg) variant of OCRL (Q01968)
P6R (p.Pro6Arg) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs759203987
- ClinGen CA414550232
- ClinVar RCV002995870
- ExAC rs759203987
- Likely benign
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.29
- MetaLR 0.66
- MetaSVM 0.24
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Likely benign (Lowe syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)