N17K (p.Asn17Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
N17K (p.Asn17Lys) 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 Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- rs761498953
- ClinGen CA352060728
- ClinVar RCV004017020
- ExAC rs761498953
- Uncertain significance
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.73
- ClinVar: Uncertain significance (Lynch syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)