R103Q (p.Arg103Gln) variant of MTOR (P42345)
R103Q (p.Arg103Gln) in MTOR (P42345) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs763230714
- NCI-TCGA Cosmic COSV6387
- ExAC rs763230714
- gnomAD rs763230714
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available