I8N (p.Ile8Asn) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8N (p.Ile8Asn) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I8N (p.Ile8Asn) variant details
- p.Ile8Asn
- gnomAD 3-36993570-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available