V15L (p.Val15Leu) variant of OCRL (Q01968)
V15L (p.Val15Leu) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- rs2071724829
- ClinGen CA414550292
- ClinVar RCV001905635
- Ensembl rs2071724829
- Uncertain significance
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.30
- MetaLR 0.61
- MetaSVM -0.56
- CADD 8.58
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Lowe syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)