N3T (p.Asn3Thr) variant of H6PD (O95479)
N3T (p.Asn3Thr) in H6PD (O95479) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N3T (p.Asn3Thr) variant details
- p.Asn3Thr
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10107
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.27
- MetaLR 0.75
- MetaSVM 0.14
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.46
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available