R62C (p.Arg62Cys) variant of MTOR (P42345)
R62C (p.Arg62Cys) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- gnomAD rs1217005872
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.11
- CADD 25.20
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available