T14I (p.Thr14Ile) variant of OCRL (Q01968)
T14I (p.Thr14Ile) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Nephrolithiasis/nephrocalcinosis; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- rs61752970
- ClinGen CA154188
- cosmic curated COSV10525
- ClinVar RCV000117867
- Benign/Likely benign
- Nephrolithiasis/nephrocalcinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- MetaLR 0.58
- MetaSVM -0.01
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Benign/Likely benign (Nephrolithiasis/nephrocalcinosis; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.053)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)