T124I (p.Thr124Ile) variant of RPGR (Q92834)
T124I (p.Thr124Ile) 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 0.27 / 1. The record also includes population frequency data and structural context.
T124I (p.Thr124Ile) variant details
- p.Thr124Ile
- rs781213060
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- ExAC rs781213060
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 18.00
- PolyPhen-2 0.57
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available