R62H (p.Arg62His) variant of MTOR (P42345)
R62H (p.Arg62His) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs375240279
- ClinGen CA17960157
- ClinVar RCV002207299
- gnomAD rs375240279
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.17
- CADD 21.80
- PolyPhen-2 0.09
- SIFT 0.10
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available