M1595I (p.Met1595Ile) variant of MTOR (P42345)
M1595I (p.Met1595Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M1595I (p.Met1595Ile) variant details
- p.Met1595Ile
- rs869312671
- ClinGen CA353423
- ClinVar RCV000209880
- UniProt VAR 078833
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.87
- MetaLR 0.53
- MetaSVM 0.03
- CADD 26.00
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in SKS)
- UniProt: Pathogenic (in SKS)
- Population evidence available
- Structural context available
- Cited in: Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. (PMID 27830187)
- Cited in: A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and… (PMID 25851998)