V7A (p.Val7Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
V7A (p.Val7Ala) 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; Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- rs755402059
- ClinGen CA352060447
- ClinVar RCV003594767
- ClinVar RCV004011348
- Uncertain significance
- Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.26
- MutPred 0.37
- ClinVar: Uncertain significance (Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)