Q34R (p.Gln34Arg) variant of OCRL (Q01968)
Q34R (p.Gln34Arg) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nephrolithiasis/nephrocalcinosis; Dent disease type 2; Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- rs751244947
- ClinGen CA10511928
- ClinVar RCV003456577
- ClinVar RCV003509787
- Conflicting interpretations
- Nephrolithiasis/nephrocalcinosis; Dent disease type 2; Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.16
- MetaLR 0.46
- MetaSVM -0.53
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Nephrolithiasis/nephrocalcinosis; Dent disease type 2; Lowe synd)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)