S21A (p.Ser21Ala) variant of PANK2 (Q9BZ23)
S21A (p.Ser21Ala) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S21A (p.Ser21Ala) variant details
- p.Ser21Ala
- rs764119764
- gnomAD 20-3889161-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.56
- MetaSVM -0.13
- CADD 2.46
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available