P4R (p.Pro4Arg) variant of ETFDH (Q16134)
P4R (p.Pro4Arg) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- Ensembl rs1561233057
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available