V4L (p.Val4Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
V4L (p.Val4Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- rs1559500060
- ClinGen CA352060308
- ClinVar RCV001304319
- Ensembl rs1559500060
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available