P53A (p.Pro53Ala) variant of LCAT (P04180)
P53A (p.Pro53Ala) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- rs761312598
- gnomAD 16-67940072-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 6.87
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available