L99V (p.Leu99Val) variant of KRIT1 (O00522)
L99V (p.Leu99Val) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L99V (p.Leu99Val) variant details
- p.Leu99Val
- cosmic curated COSV60668
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.95
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 0.00081)
- Structural context available