F377L (p.Phe377Leu) variant of RPGR (Q92834)
F377L (p.Phe377Leu) in RPGR (Q92834) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
F377L (p.Phe377Leu) variant details
- p.Phe377Leu
- NCI-TCGA Cosmic COSV5883
- Conflicting interpretations
- Primary ciliary dyskinesia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.079
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available