A38T (p.Ala38Thr) variant of MTOR (P42345)
A38T (p.Ala38Thr) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs138117203
- ClinGen CA591026
- ClinVar RCV000808654
- ClinVar RCV001255811
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.15
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.42
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)