T2S (p.Thr2Ser) variant of NUDT15 (Q9NV35)
T2S (p.Thr2Ser) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 13-48037750-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.073
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.02
- CADD 1.90
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available