A18S (p.Ala18Ser) variant of POLD1 (P28340)
A18S (p.Ala18Ser) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 19-50398903-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.02
- CADD 9.38
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available