K146R (p.Lys146Arg) variant of SMARCE1 (Q969G3)
K146R (p.Lys146Arg) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K146R (p.Lys146Arg) variant details
- p.Lys146Arg
- ExAC rs748318573
- gnomAD rs748318573
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- CADD 27.30
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available