L58P (p.Leu58Pro) variant of KRIT1 (O00522)
L58P (p.Leu58Pro) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- gnomAD rs1259089506
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.63
- CADD 26.80
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available