Y125H (p.Tyr125His) variant of KRIT1 (O00522)
Y125H (p.Tyr125His) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y125H (p.Tyr125His) variant details
- p.Tyr125His
- ExAC rs758062997
- TOPMed rs758062997
- gnomAD rs758062997
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available