N30T (p.Asn30Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
N30T (p.Asn30Thr) in MLH1 (DNA mismatch repair protein Mlh1) 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 0.83 / 1. The record also includes structural context.
N30T (p.Asn30Thr) variant details
- p.Asn30Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.82
- MetaSVM 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available