P28T (p.Pro28Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
P28T (p.Pro28Thr) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- gnomAD 3-36993629-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available