L53F (p.Leu53Phe) variant of KRIT1 (O00522)
L53F (p.Leu53Phe) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- ExAC rs765145742
- gnomAD rs765145742
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.48
- CADD 17.80
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available