A74T (p.Ala74Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
A74T (p.Ala74Thr) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- rs1195086138
- TOPMed rs1195086138
- gnomAD rs1195086138
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.48
- CADD 23.00
- PolyPhen-2 0.58
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available