Y47C (p.Tyr47Cys) variant of MTOR (P42345)
Y47C (p.Tyr47Cys) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y47C (p.Tyr47Cys) variant details
- p.Tyr47Cys
- rs146812066
- ClinGen CA591020
- ClinVar RCV000824542
- ESP rs146812066
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.68
- CADD 29.00
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available