T30R (p.Thr30Arg) variant of NF1 (Neurofibromin)
T30R (p.Thr30Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T30R (p.Thr30Arg) variant details
- p.Thr30Arg
- Ensembl rs2143625564
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.37
- MetaLR 0.09
- MetaSVM -1.09
- CADD 24.40
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available