M1L (p.Met1Leu) variant of RP2 (Protein XRP2)
M1L (p.Met1Leu) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2147074594
- ClinGen CA413038133
- ClinVar RCV003006391
- ClinVar RCV005254661
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)