M1V (p.Met1Val) variant of RHO (Rhodopsin)
M1V (p.Met1Val) 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 0.40 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1426348071
- ClinGen CA354494988
- ClinVar RCV003670865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- MetaLR 0.31
- MetaSVM -0.40
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available