H20R (p.His20Arg) variant of FERMT1 (Fermitin family homolog 1)
H20R (p.His20Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H20R (p.His20Arg) variant details
- p.His20Arg
- 1000Genomes rs140624712
- ExAC rs140624712
- TOPMed rs140624712
- gnomAD rs140624712
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.10
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available