V20A (p.Val20Ala) variant of NUDT15 (Q9NV35)
V20A (p.Val20Ala) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 13-48037805-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.25
- MetaLR 0.10
- MetaSVM -1.02
- CADD 26.00
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available