I25N (p.Ile25Asn) variant of MLH1 (DNA mismatch repair protein Mlh1)
I25N (p.Ile25Asn) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I25N (p.Ile25Asn) variant details
- p.Ile25Asn
- gnomAD 3-36993621-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available