M18V (p.Met18Val) variant of OCRL (Q01968)
M18V (p.Met18Val) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M18V (p.Met18Val) variant details
- p.Met18Val
- rs779021479
- ClinGen CA10511919
- ClinVar RCV001912807
- ExAC rs779021479
- Likely benign
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.45
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Likely benign (Lowe syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 9.9e-05)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)