R29K (p.Arg29Lys) variant of KRIT1 (O00522)
R29K (p.Arg29Lys) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- ESP rs148993606
- ExAC rs148993606
- TOPMed rs148993606
- gnomAD rs148993606
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.87
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available