H25N (p.His25Asn) variant of NUDT15 (Q9NV35)
H25N (p.His25Asn) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H25N (p.His25Asn) variant details
- p.His25Asn
- gnomAD 13-48037819-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.15
- MetaLR 0.03
- MetaSVM -1.03
- CADD 22.80
- PolyPhen-2 0.63
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available