N30I (p.Asn30Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
N30I (p.Asn30Ile) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
N30I (p.Asn30Ile) variant details
- p.Asn30Ile
- rs2080903905
- ClinGen CA352061013
- ClinVar RCV001234633
- Ensembl rs2080903905
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.92
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available