H39R (p.His39Arg) variant of RPGR (Q92834)
H39R (p.His39Arg) in RPGR (Q92834) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
H39R (p.His39Arg) variant details
- p.His39Arg
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.057
- CADD 0.01
- PolyPhen-2 0.02
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available