P27L (p.Pro27Leu) variant of ETFDH (Q16134)
P27L (p.Pro27Leu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD rs1349402022
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.29
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available