L31R (p.Leu31Arg) variant of NUDT15 (Q9NV35)
L31R (p.Leu31Arg) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- gnomAD 13-48037838-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.51
- MetaLR 0.25
- MetaSVM -0.37
- CADD 27.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available