Q39P (p.Gln39Pro) variant of RLBP1 (Retinaldehyde-binding protein 1)
Q39P (p.Gln39Pro) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q39P (p.Gln39Pro) variant details
- p.Gln39Pro
- ExAC rs758111666
- gnomAD rs758111666
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.24
- CADD 21.10
- PolyPhen-2 0.15
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available