K103R (p.Lys103Arg) variant of KRIT1 (O00522)
K103R (p.Lys103Arg) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K103R (p.Lys103Arg) variant details
- p.Lys103Arg
- gnomAD rs1329724001
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available