S28N (p.Ser28Asn) variant of PCCA (P05165)
S28N (p.Ser28Asn) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD 13-100089203-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Literature evidence available