S34P (p.Ser34Pro) variant of KCNE1 (P15382)
S34P (p.Ser34Pro) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- ESP rs376479233
- ExAC rs376479233
- gnomAD rs376479233
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 6.49
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.31