P6T (p.Pro6Thr) variant of NF1 (Neurofibromin)
P6T (p.Pro6Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- Ensembl rs1567786812
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.16
- MetaLR 0.18
- MetaSVM -0.85
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available