A21T (p.Ala21Thr) variant of KRIT1 (O00522)
A21T (p.Ala21Thr) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD rs1233466287
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.18
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available