M50I (p.Met50Ile) variant of MTOR (P42345)
M50I (p.Met50Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M50I (p.Met50Ile) variant details
- p.Met50Ile
- rs755044119
- ClinGen CA591019
- ClinVar RCV001223971
- ClinVar RCV005372600
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.04
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)