T7A (p.Thr7Ala) variant of RLBP1 (Retinaldehyde-binding protein 1)
T7A (p.Thr7Ala) 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 0.30 / 1. The record also includes population frequency data and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- rs2505865262
- ClinGen CA393731913
- ClinVar RCV002957890
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.27
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available