P6L (p.Pro6Leu) variant of OCRL (Q01968)
P6L (p.Pro6Leu) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs759203987
- ClinGen CA10511909
- ClinVar RCV003622291
- ExAC rs759203987
- Likely benign
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.26
- MetaLR 0.60
- MetaSVM 0.22
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Likely benign (Lowe syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6.9e-05)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)