M39V (p.Met39Val) variant of RHO (Rhodopsin)
M39V (p.Met39Val) 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 0.27 / 1. The record also includes structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- rs776411064
- ClinGen CA354495783
- ClinVar RCV003014929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available