N106S (p.Asn106Ser) variant of RLBP1 (Retinaldehyde-binding protein 1)
N106S (p.Asn106Ser) 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 0.39 / 1. The record also includes population frequency data and structural context.
N106S (p.Asn106Ser) variant details
- p.Asn106Ser
- rs905070285
- ClinGen CA274535421
- ClinVar RCV001243220
- TOPMed rs905070285
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available