P6L (p.Pro6Leu) variant of MTOR (P42345)
P6L (p.Pro6Leu) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- Ensembl rs2100986687
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.07
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.48
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available