T14T (p.Thr14Thr) variant of OCRL (Q01968)
T14T (p.Thr14Thr) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T14T (p.Thr14Thr) variant details
- p.Thr14Thr
- rs1935784945
- gnomAD X-129540746-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 15.50
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available