T14A (p.Thr14Ala) variant of OCRL (Q01968)
T14A (p.Thr14Ala) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Lowe syndrome; Dent disease type 2. 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.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- rs371099243
- ClinGen CA10511917
- ClinVar RCV001817561
- ClinVar RCV002482356
- Uncertain significance
- not specified; Lowe syndrome; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.15
- MetaLR 0.59
- MetaSVM -0.23
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not specified; Lowe syndrome; Dent disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.056)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)