M27R (p.Met27Arg) variant of KCNE1 (P15382)
M27R (p.Met27Arg) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M27R (p.Met27Arg) variant details
- p.Met27Arg
- gnomAD 21-34449555-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.40
- PolyPhen-2 0.02
- SIFT 0.24
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.36
- Literature evidence available