A123V (p.Ala123Val) variant of CDKN1C (P49918)
A123V (p.Ala123Val) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- rs1848873750
- gnomAD 11-2884019-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- MetaLR 0.36
- MetaSVM -0.48
- CADD 15.60
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available