R49G (p.Arg49Gly) variant of KRIT1 (O00522)
R49G (p.Arg49Gly) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- gnomAD rs1382124919
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.39
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available