L98V (p.Leu98Val) variant of PRPH2 (Peripherin-2)
L98V (p.Leu98Val) in PRPH2 (Peripherin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L98V (p.Leu98Val) variant details
- p.Leu98Val
- gnomAD rs1417128552
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.62
- AlphaMissense 0.15
- MetaLR 0.60
- MetaSVM 0.27
- CADD 24.30
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available