A3S (p.Ala3Ser) variant of NUDT15 (Q9NV35)
A3S (p.Ala3Ser) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 13-48037753-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.01
- CADD 5.42
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available