G17A (p.Gly17Ala) variant of OCRL (Q01968)
G17A (p.Gly17Ala) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs768913997
- ClinGen CA10511918
- ClinVar RCV000502299
- ClinVar RCV002056860
- Conflicting interpretations
- Nephrolithiasis/nephrocalcinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.46
- MetaLR 0.71
- MetaSVM 0.34
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Nephrolithiasis/nephrocalcinosis; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00028)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)