N128H (p.Asn128His) variant of MED13L (Q71F56)
N128H (p.Asn128His) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N128H (p.Asn128His) variant details
- p.Asn128His
- ExAC rs776706811
- gnomAD rs776706811
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.79
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available