I20N (p.Ile20Asn) variant of ETFB (P38117)
I20N (p.Ile20Asn) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I20N (p.Ile20Asn) variant details
- p.Ile20Asn
- ExAC rs746284138
- gnomAD rs746284138
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.75
- CADD 25.40
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available