E10D (p.Glu10Asp) variant of KCNQ5 (Q9NR82)
E10D (p.Glu10Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- cosmic curated COSV10817
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.33
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available