V3A (p.Val3Ala) variant of STK11 (Q15831)
V3A (p.Val3Ala) in STK11 (Q15831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- gnomAD 19-1206921-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.06
- MetaLR 0.15
- MetaSVM -0.99
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available