A14A (p.Ala14Ala) variant of LMNA (Prelamin-A/C)
A14A (p.Ala14Ala) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs777460187
- gnomAD 1-156114960-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 17.20
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available