T30T (p.Thr30Thr) variant of NF1 (Neurofibromin)
T30T (p.Thr30Thr) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T30T (p.Thr30Thr) variant details
- p.Thr30Thr
- rs1336406332
- gnomAD 17-31156012-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 7.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available