I100V (p.Ile100Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
I100V (p.Ile100Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I100V (p.Ile100Val) variant details
- p.Ile100Val
- TOPMed rs1485138355
- gnomAD rs1485138355
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.33
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available