H44R (p.His44Arg) variant of OPA1 (O60313)

Name: OPA1 H44R (p.His44Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-06-12
License: https://catvariant.com/terms-of-use

H44R (p.His44Arg) in OPA1 (O60313) 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 0.16 / 1. The record also includes population frequency data and structural context.

H44R (p.His44Arg) variant details

p.His44Arg
rs1340467055
NCI-TCGA Cosmic COSV6247
cosmic curated COSV62479
TOPMed rs1340467055
Variant assessed as somatic; moderate impact.
Missense
Variant Prioritization Score for Impact Estimate 0.158
REVEL 0.22
CADD 2.12
PolyPhen-2 0.05
SIFT 0.21
UniProt: Variant assessed as somatic; moderate impact.
Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
Structural context available