H24L (p.His24Leu) variant of PMS2 (P54278)
H24L (p.His24Leu) in PMS2 (P54278) 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 0.77 / 1. The record also includes population frequency data and structural context.
H24L (p.His24Leu) variant details
- p.His24Leu
- rs139233015
- ClinGen CA366745119
- ClinVar RCV001904712
- 1000Genomes rs139233015
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.79
- MetaLR 0.79
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.58
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available