M44V (p.Met44Val) variant of RHO (Rhodopsin)
M44V (p.Met44Val) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M44V (p.Met44Val) variant details
- p.Met44Val
- gnomAD rs1287941897
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance (in RP4)
- UniProt: Uncertain significance (in RP4)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available