K39R (p.Lys39Arg) variant of MTOR (P42345)
K39R (p.Lys39Arg) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- ExAC rs746784076
- gnomAD rs746784076
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available