V21F (p.Val21Phe) variant of KCNE1 (P15382)
V21F (p.Val21Phe) in KCNE1 (P15382) 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, experimental measurements, published literature, and structural context.
V21F (p.Val21Phe) variant details
- p.Val21Phe
- gnomAD 21-34449574-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.80
- PolyPhen-2 0.25
- SIFT 0.08
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.6
- Literature evidence available