M69T (p.Met69Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
M69T (p.Met69Thr) 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 0.47 / 1. The record also includes population frequency data and structural context.
M69T (p.Met69Thr) variant details
- p.Met69Thr
- rs747494175
- ClinGen CA7722358
- ClinVar RCV001954505
- ExAC rs747494175
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available