V21I (p.Val21Ile) variant of MTOR (P42345)
V21I (p.Val21Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- rs149221273
- ClinGen CA591033
- ClinVar RCV001244697
- ClinVar RCV003166535
- Benign/Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.09
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.32
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)