T27A (p.Thr27Ala) variant of RLBP1 (Retinaldehyde-binding protein 1)
T27A (p.Thr27Ala) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- rs974591388
- ClinGen CA274536568
- ClinVar RCV001995609
- Ensembl rs974591388
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.26
- CADD 16.10
- PolyPhen-2 0.10
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available