A16V (p.Ala16Val) variant of RHO (Rhodopsin)
A16V (p.Ala16Val) in RHO (Rhodopsin) 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 0.15 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs201340914
- ClinGen CA2607043
- NCI-TCGA Cosmic COSV5621
- ClinVar RCV001055757
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.14
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available