I44V (p.Ile44Val) variant of REEP1 (Q9H902)
I44V (p.Ile44Val) in REEP1 (Q9H902) 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.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- ExAC rs759528213
- gnomAD rs759528213
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.37
- CADD 17.30
- PolyPhen-2 0.17
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available