S22N (p.Ser22Asn) variant of NUDT15 (Q9NV35)
S22N (p.Ser22Asn) 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.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- gnomAD 13-48037811-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.18
- MetaLR 0.02
- MetaSVM -0.90
- CADD 23.20
- PolyPhen-2 0.53
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available