I99T (p.Ile99Thr) variant of PRMT5 (O14744)
I99T (p.Ile99Thr) in PRMT5 (O14744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I99T (p.Ile99Thr) variant details
- p.Ile99Thr
- rs759768927
- ClinGen CA7107398
- ClinVar RCV004515306
- ExAC rs759768927
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available