D173N (p.Asp173Asn) variant of PRPH2 (Peripherin-2)
D173N (p.Asp173Asn) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
D173N (p.Asp173Asn) variant details
- p.Asp173Asn
- rs1582780487
- ClinGen CA364137384
- ClinVar RCV000787869
- Ensembl rs1582780487
- Uncertain significance
- Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.90
- MetaLR 0.76
- MetaSVM 0.59
- SIFT 0.00
- MutPred 0.88
- ClinVar: Uncertain significance (Retinitis pigmentosa)
- EBI: Variant of uncertain significance (in RP7)
- UniProt: Uncertain significance (in RP7)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)