H28P (p.His28Pro) variant of ETFA (P13804)
H28P (p.His28Pro) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
H28P (p.His28Pro) variant details
- p.His28Pro
- Ensembl rs2039810953
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available