A12V (p.Ala12Val) variant of MTOR (P42345)
A12V (p.Ala12Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1339465839
- ClinGen CA338405463
- ClinVar RCV002913816
- gnomAD rs1339465839
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available