S34A (p.Ser34Ala) variant of KCNE1 (P15382)
S34A (p.Ser34Ala) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S34A (p.Ser34Ala) variant details
- p.Ser34Ala
- ESP rs376479233
- ExAC rs376479233
- gnomAD rs376479233
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.77
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.31