P4L (p.Pro4Leu) variant of OCRL (Q01968)
P4L (p.Pro4Leu) 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; Nephrolithiasis/nephrocalcinosis; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs770815981
- ClinGen CA10511907
- cosmic curated COSV10591
- ClinVar RCV002485992
- Likely benign
- Lowe syndrome; Nephrolithiasis/nephrocalcinosis; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.24
- MetaLR 0.47
- MetaSVM -0.48
- CADD 7.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Likely benign (Lowe syndrome; Nephrolithiasis/nephrocalcinosis; Dent disease ty)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0027)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)