H120R (p.His120Arg) variant of REEP1 (Q9H902)
H120R (p.His120Arg) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H120R (p.His120Arg) variant details
- p.His120Arg
- gnomAD rs1232655129
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.34
- CADD 20.50
- PolyPhen-2 0.59
- SIFT 0.68
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available