V11I (p.Val11Ile) variant of RLBP1 (Retinaldehyde-binding protein 1)
V11I (p.Val11Ile) 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.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs772224977
- ClinGen CA7722404
- ClinVar RCV001360185
- ExAC rs772224977
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.24
- CADD 16.00
- PolyPhen-2 0.06
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available