L53S (p.Leu53Ser) variant of KRIT1 (O00522)
L53S (p.Leu53Ser) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L53S (p.Leu53Ser) variant details
- p.Leu53Ser
- ExAC rs750425590
- gnomAD rs750425590
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.58
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available