C68R (p.Cys68Arg) variant of ETFA (P13804)
C68R (p.Cys68Arg) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
C68R (p.Cys68Arg) variant details
- p.Cys68Arg
- gnomAD rs1212819351
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.43
- ESM-1b 0.37
- AlphaMissense 0.24
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available