V7F (p.Val7Phe) variant of OCRL (Q01968)
V7F (p.Val7Phe) 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; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V7F (p.Val7Phe) variant details
- p.Val7Phe
- rs1935772672
- ClinGen CA414550234
- ClinVar RCV004799360
- ClinVar RCV005040103
- Uncertain significance
- Lowe syndrome; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.41
- MetaLR 0.55
- MetaSVM -0.42
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Lowe syndrome; Dent disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)