G122A (p.Gly122Ala) variant of REEP1 (Q9H902)
G122A (p.Gly122Ala) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G122A (p.Gly122Ala) variant details
- p.Gly122Ala
- gnomAD rs1372179529
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available