P4L (p.Pro4Leu) variant of ETFDH (Q16134)
P4L (p.Pro4Leu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD 4-158672467-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.23
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available